Animal models of spinal muscular atrophy

Proximal spinal muscular atrophy (SMA) is the second most common autosomal recessive inherited disorder in humans. It is the most common genetic cause of infant mortality. As yet, there is no core for this neuromuscular disor der which affects the lower motor neurons and proximal muscles of the limbs and trunk. In the last decade, significant advances have been made in unde rstanding this disease, from linkage analysis to isolating the defective ge ne and identifying its protein product, This review summarizes the most rec ent advance in SMA research: the development of animal models of the diseas e, in particular mouse models of SMA, The SMA mice that we describe here pr esent with symptoms similar to those seen in SMA patients. They promise to further the understanding of the molecular basis of this disease and demons trate the feasibility of using the intact SMN2 gene, found in all SMA patie nts, as a means of treating this disorder.